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Article

Cerebrotendinous xanthomatosis: possible higher prevalence than previously recognized.

Archives of neurology - 1 Sept 2005

Lorincz Matthew T, Rainier Shirley, Thomas Donald, Fink John K

Abstract excerpt

BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is a rare but treatable neurodegenerative disorder caused by 27-sterol hydroxylase (CYP27) deficiency. OBJECTIVE: To describe clinical features and results of genetic analysis in a family with CTX. DESIGN: Case report. SETTING: University hospital. Subjects A 54-year-old woman with CTX, her family members, and 115 white control subjects. MAIN OUTCOME MEASURES:...

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Identifiers

PMID: 16157755
DOI: 10.1001/archneur.62.9.1459

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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